BackgroundGSTM1 gene deletion is one of the most known copy number polymorphisms in human genome. It is most likely caused by homologous recombination between the repeats flanking the gene. However, taking into account that the deletion has no crucial effects on human well-being, and the ability of other GSTMs to compensate for the lack of GSTM1, a role for additional factors affecting GSTM1 deletion can be proposed. Our goal was to explore the relationships between GSTM1 deletion polymorphism and single nucleotide polymorphisms (SNPs) in the region of the GSTM cluster that includes GSTM2, GSTM3, GSTM4, and GSTM5 in addition to GSTM1.ResultsReal-time polymerase chain reaction was used to quantify the number of GSTM1 copies. Fourteen SNPs from the region were tested and their allelic patterns were compared in groups of Russian individuals subdivided according to their GSTM1 deletion genotypes. Linkage disequilibrium-based haplotype analysis showed substantial differences of haplotype frequencies between the groups, especially between individuals with homozygous GSTM1 −/− and +/+ genotypes. Exploration of the results of phasing of GSTM1 and SNP genotypes revealed unequal segregation of GSTM1 + and − alleles at different haplotypes.ConclusionsThe observed differences in haplotype patterns suggest the potential role of genetic context in GSTM1 deletion frequency (appearance) and in the determination of the deletion-related effects.
Резюме В однородной по гендерному, возрастному и социальному статусу популяции военнослужащих пациентов пульмонологических отделений 301 ВКГ г. Хабаровска и его филиала, проходивших лечение в 2011-2017 гг. (6 583 пациента, возраст -18-37 лет) оценивали особенности локализации и длительности течения ВП. Долевое и сегментарное распределение фокусов ВП в обоих легких было весьма неравномерным. Наиболее часто были вовлечены в процесс нижние и средняя доли, а также 5-й, 8-й, 9-й, 10-й сегменты; наиболее редко -верхняя доля справа и 1-й, 2-й, 7-й сегменты. Выявлена достоверная связь определенных зон моносегментарной локализации ВП с длительностью ее течения. Справа, в 1-й зоне (2-4-й и 7-й сегменты) средний койко-день (к/д) составил 15,8, во 2-й зоне (9-й, 10-й сегменты) -16,9, в 3-й (5-й, 6-й, 8-й сегменты) -18,8 к/д (р<0,05). Слева в 1-й зоне (1 -5-й и 9-10-й сегменты) средний к/д составил 16,3, во 2-й зоне (6-й и 8-й сегменты) он был равен 18,6 (р<0,05). «Топический фактор» длительности течения ВП следует учитывать при лечении таких пациентов.Ключевые слова: внебольничная пневмония, локализация, длительность. SummaryIn the homogeneous according to age, gender and social status of the patients treated at the pulmonology departments of military hospital № 301 in Khabarovsk and in its affi liate throughout 2011-2017 (6 583 patients, age 18-37 years) the features of the localization and duration of the CAP were assessed. The lobar and segmental distribution of focal infl ammation of the CAP in both lungs was highly uneven.Most often, the lower and middle parts were involved in the process, as well as 5, 8, 9, 10 segments; most rarely -the upper lobe on the right lung and 1, 2, 7 segments.A reliable connection of certain zones of mono-segmental localization of the CAP with its duration was revealed. The average duration of hospitalization in patients with CAP of the right lung in 1 zone (2-4 and 7 segments), was 15,8 days, in 2 zone (9, 10 segments) -16,9 days, in 3 zone (5, 6, 8 segments) -18,8 days (p<0,05). On the left in 1 zone (1-5 and 9-10 segments), was 16,3 days, in the 2 zone (6 and 8 segments) it was 18,6 days (p<0,05).The «topical factor» of the duration of CAP course should be considered when treating such patients.
В работе представлены результаты отбора наиболее перспективных однонуклеотидных полиморфизмов из числа локусов, продемонстрировавших ассоциации с сердечно-сосудистыми заболеваниями в полногеномных исследованиях. Идентифицировано 20 таких локусов. Для 8 из них разработаны протоколы дискриминации аллельных вариантов с помощью полимеразной цепной реакции в реальном времени в технологии TaqMan и проведена оценка их встречаемости в выборке индивидов из Москвы, принадлежащих к русской этнической группе. Ключевые слова: сердечно-сосудистые заболевания, полиморфизм однонуклеотидных замен, ишемическая болезнь сердца, ишемический инсульт.
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